The Confluence project will develop a large research resource by 2020 to uncover breast cancer genetics through genome-wide association studies (GWAS). The resource will include at least 300,000 breast cancer cases and 300,000 controls of different races/ethnicities. This will be accomplished by the confluence of existing GWAS and new genome-wide genotyping data to be generated through this project.
Broad scientific aims that can be addressed through this resource include:
- To discover susceptibility loci and advance knowledge of etiology of breast cancer overall and by subtypes.
- To develop polygenic risk scores and integrate them with known risk factors for personalized risk assessment for breast cancer overall and by subtypes.
- To discover loci for breast cancer prognosis, long-term survival, response to treatment, and second breast cancer.
To be eligible to participate, studies with cases of in situ or invasive breast cancer (females or males) must have:
- Genome-wide genotyping data or germline DNA for genotyping, i.e.:
- existing genome-wide genotyping data, or
- germline DNA available for new genotyping, or
- blood/buccal samples for germline DNA isolation and genotyping.
- Basic phenotype data (e.g. age at diagnosis, gender, family history of breast cancer)
- Appropriate ethics approval for genetic studies and data sharing
Please refer to the Confluence study project (pdf, 788 KB) for more details on Confluence and how studies can participate.
Please complete the study inventory if you are interested in participating in Confluence. This inventory is for planning purposes only and implies no commitment to participate. If you have any questions, please contact the Project Manager, Thomas Ahearn, at ConfluenceProject@nih.gov.
Confluence is supported by NCI Intramural Research funds.